Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome

Stem Cell Research 2026 Open access

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Authors: Caleb Jerred, Haribaskar Ramachandran, Barbara Hildebrandt, Annika Zink, Natascia Ventura, Andrea Rossi, Alessandro Prigione
DOI: 10.1016/j.scr.2026.104002
Cited by: 1
References: 9

Abstract

NDUFS1 is a critical component of mitochondrial respiratory chain Complex I (CI). Pathogenic variants of NDUFS1 can cause Leigh syndrome (LS), a severe pediatric mitochondrial disorder. To model NDUFS1-linked LS, we generated an iPSC line with homozygous missense mutations in exon 8 using CRISPR/Cas9. The cell line demonstrated typical morphology, expression of iPSC markers, ability to differentiate into all three germ layers, and genomic integrity. This model will enable the study of LS caused by CI in an isogenic context.

Fields of Study & Subjects

Mitochondrial Function and Pathology ATP Synthase and ATPases Research Adipose Tissue and Metabolism

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
94
Pages
104002–104002
Publication date
30 April 2026
Language
EN